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1.
Nanomaterials (Basel) ; 14(16)2024 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-39195392

RESUMO

Colloidal quantum dots (CQDs) are valuable for their potential applications in optoelectronic devices. However, they are susceptible to thermal degradation during processing and while in use. Mitigating thermally induced sintering, which leads to absorption spectrum broadening and undesirable changes to thin film electrical properties, is necessary for the reliable design and manufacture of CQD-based optoelectronics. Here, low-temperature metal-oxide atomic layer deposition (ALD) was investigated as a method for mitigating sintering while preserving the optoelectronic properties of mercury telluride (HgTe) CQD films. ALD-coated films are subjected to temperatures up to 160 °C for up to 5 h and alumina (Al2O3) is found to be most effective at preserving the optical properties, demonstrating the feasibility of metal-oxide in-filling to protect against sintering. HgTe CQD film electrical properties were investigated before and after alumina ALD in-filling, which was found to increase the p-type doping and hole mobility of the films. The magnitude of these effects depended on the conditions used to prepare the HgTe CQDs. With further investigation into the interaction effects of CQD and ALD process factors, these results may be used to guide the design of CQD-ALD materials for their practical integration into useful optoelectronic devices.

2.
JMIR Res Protoc ; 13: e52843, 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38753428

RESUMO

BACKGROUND: The COVID-19 pandemic highlighted the importance of robust public health data systems and the potential utility of data dashboards for ensuring access to critical public health data for diverse groups of stakeholders and decision makers. As dashboards are becoming ubiquitous, it is imperative to consider how they may be best integrated with public health data systems and the decision-making routines of diverse audiences. However, additional progress on the continued development, improvement, and sustainability of these tools requires the integration and synthesis of a largely fragmented scholarship regarding the purpose, design principles and features, successful implementation, and decision-making supports provided by effective public health data dashboards across diverse users and applications. OBJECTIVE: This scoping review aims to provide a descriptive and thematic overview of national public health data dashboards including their purpose, intended audiences, health topics, design elements, impact, and underlying mechanisms of use and usefulness of these tools in decision-making processes. It seeks to identify gaps in the current literature on the topic and provide the first-of-its-kind systematic treatment of actionability as a critical design element of public health data dashboards. METHODS: The scoping review follows the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) guidelines. The review considers English-language, peer-reviewed journal papers, conference proceedings, book chapters, and reports that describe the design, implementation, and evaluation of a public health dashboard published between 2000 and 2023. The search strategy covers scholarly databases (CINAHL, PubMed, Medline, and Web of Science) and gray literature sources and uses snowballing techniques. An iterative process of testing for and improving intercoder reliability was implemented to ensure that coders are properly trained to screen documents according to the inclusion criteria prior to beginning the full review of relevant papers. RESULTS: The search process initially identified 2544 documents, including papers located via databases, gray literature searching, and snowballing. Following the removal of duplicate documents (n=1416), nonrelevant items (n=839), and items classified as literature reviews and background information (n=73), 216 documents met the inclusion criteria: US case studies (n=90) and non-US case studies (n=126). Data extraction will focus on key variables, including public health data characteristics; dashboard design elements and functionalities; intended users, usability, logistics, and operation; and indicators of usefulness and impact reported. CONCLUSIONS: The scoping review will analyze the goals, design, use, usefulness, and impact of public health data dashboards. The review will also inform the continued development and improvement of these tools by analyzing and synthesizing current practices and lessons emerging from the literature on the topic and proposing a theory-grounded and evidence-informed framework for designing, implementing, and evaluating public health data dashboards. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/52843.


Assuntos
COVID-19 , Saúde Pública , Humanos , COVID-19/epidemiologia , Saúde Pública/métodos , Sistemas de Painéis
3.
Health Commun ; 37(9): 1167-1179, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-34320893

RESUMO

End-stage renal disease (ESRD) is characterized by racial inequity; Blacks are 3 times more likely to develop ESRD than Whites. Transplant is the preferred treatment option since transplanted patients experience better clinical outcomes. Racial inequities persist at each of the steps required for transplantation. Despite the vast literature describing these racial inequities, it does not include dialysis patients' awareness and understanding of treatment options, specifically for transplant. To address this gap, we purposely sampled Blacks in Detroit who were receiving dialysis and who were not active on any transplant waitlist to investigate their understanding and perceptions of transplants. We used uncertainty management theory (UMT) to better understand perceived barriers to getting and remaining on a transplant waitlist. We aimed to address a critical gap in the literature to inform approaches addressing this enduring inequity. For this qualitative study, we conducted individual, semi-structured interviews with 24 Black ESRD patients, aged 34-73 years: 9 male and 15 female. Participants shared their experiences of being on dialysis, perceptions, and understanding of transplants. We describe two key findings: 1) uncertainty for these patients is prevalent and multi-layered and 2) social support can both dissuade an individual from pursuing transplant (i.e., reluctance to ask family members to be donors) and it can result in decreasing uncertainty (e.g., participants wanting to pursue transplant to be with family). We highlight the specific need to improve patient education regarding treatment options and enhancing how relevant health information can be communicated.


Assuntos
Falência Renal Crônica , Transplante de Rim , Feminino , Humanos , Falência Renal Crônica/cirurgia , Transplante de Rim/educação , Masculino , Diálise Renal , Doadores de Tecidos , População Branca
4.
Virol J ; 18(1): 206, 2021 10 18.
Artigo em Inglês | MEDLINE | ID: mdl-34663367

RESUMO

As genetic analysis becomes less expensive, more comprehensive diagnostics such as whole genome sequencing (WGS) will become available to the veterinary practitioner. The WGS elucidates more about porcine reproductive and respiratory syndrome virus (PRRSV) beyond the traditional analysis of open reading frame (ORF) 5 Sanger sequencing. The veterinary practitioner will require a more complete understanding of the mechanics and consequences of PRRSV genetic variability to interpret the WGS results. More recently, PRRSV recombination events have been described in the literature. The objective of this review is to provide a comprehensive outlook for swine practitioners that PRRSV mutates and recombines naturally causing genetic variability, review the diagnostic cadence when suspecting recombination has occurred, and present theory on how, why, and where industry accepted management practices may influence recombination. As practitioners, it is imperative to remember that PRRS viral recombination is occurring continuously in swine populations. Finding a recombinant by diagnostic analysis does not ultimately declare its significance. The error prone replication, mutation, and recombination of PRRSV means exact clones may exist; but a quasispecies swarm of variable strains also exist adding to the genetic diversity. PRRSV nonstructural proteins (nsps) are translated from ORF1a and ORF1b. The arterivirus nsps modulate the hosts' immune response and are involved in viral pathogenesis. The strains that contribute the PRRSV replicase and transcription complex is driving replication and possibly recombination in the quasispecies swarm. Furthermore, mutations favoring the virus to evade the immune system may result in the emergence of a more fit virus. More fit viruses tend to become the dominant strains in the quasispecies swarm. In theory, the swine management practices that may exacerbate or mitigate recombination include immunization strategies, swine movements, regional swine density, and topography. Controlling PRRSV equates to managing the quasispecies swarm and its interaction with the host. Further research is warranted on the frequency of recombination and the genome characteristics impacting the recombination rate. With a well-defined understanding of these characteristics, the clinical implications from recombination can be detected and potentially reduced; thus, minimizing recombination and perhaps the emergence of epidemic strains.


Assuntos
Síndrome Respiratória e Reprodutiva Suína , Vírus da Síndrome Respiratória e Reprodutiva Suína , Animais , Variação Genética , Fases de Leitura Aberta , Síndrome Respiratória e Reprodutiva Suína/diagnóstico , Vírus da Síndrome Respiratória e Reprodutiva Suína/genética , Suínos , Sequenciamento Completo do Genoma
5.
JMIR Form Res ; 5(9): e27447, 2021 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-34550080

RESUMO

BACKGROUND: Indoor air pollution is a well-known risk factor that triggers and exacerbates asthma, the most common pediatric chronic disease. Using a mobile app to monitor indoor air quality could be promising in engaging children in keeping their indoor air quality clean and healthy as secondary environmental prevention for asthma management. However, no app is available to allow children to monitor, assess, and improve their indoor air quality. OBJECTIVE: This study aims to design a mobile app that encourages children to monitor indoor air quality and track their asthma conditions through a user-centered, iterative design approach. METHODS: We reviewed existing apps for indoor air quality monitoring or asthma management for children and conducted two sets of semistructured interviews with 12 children with asthma. We then iteratively created prototypes and evaluated and revised them. RESULTS: Participants raised a series of outstanding questions on the prototype features and content that described their needs and perspectives, which informed the final designs. Following the identified requirements and recommendations, we developed two versions of the app: AirBuddy for presenting concrete information for indoor air quality and AirPet for gamifying the practice of monitoring indoor air quality. CONCLUSIONS: By following an iterative, user-centered design process, we developed two versions of an app to encourage children with asthma to monitor indoor air quality and track their asthma condition. The user-centered design approach revealed two crucial aspects that require deeper consideration when creating a child-friendly app, including balancing brevity and expressivity and considering the longitudinal effects of gamification. As a next step, we plan to conduct a longitudinal deployment study to evaluate the real-world effects of our apps.

6.
Adv Mater ; 32(9): e1906590, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31957096

RESUMO

Three-dimensional (3D) subwavelength nanostructures have emerged and triggered tremendous excitement because of their advantages over the two-dimensional (2D) counterparts in fields of plasmonics, photonic crystals, and metamaterials. However, the fabrication and integration of 3D nanophotonic structures with colloidal quantum dots (CQDs) faces several technological obstacles, as conventional lithographic and etching techniques may affect the surface chemistry of colloidal nanomaterials. Here, the direct fabrication of functional quasi-3D nanophotonic structures into CQD films is demonstrated by one-step imprinting with well-controlled precision in both vertical and lateral directions. To showcase the potential of this technique, diffraction gratings, bilayer wire-grid polarizers, and resonant metal mesh long-pass filters are imprinted on CQD films without degrading the optical and electrical properties of CQD. Furthermore, a dual-diode CQD detector into an unprecedented mid-wave infrared two-channel polarization detector is functionalized by embedding an imprinted bilayer wire-grid polarizer within the CQDs. The results show that this approach offers a feasible pathway to combine quasi-3D nanostructures with colloidal materials-based optoelectronics and access a new level of light manipulation.

7.
Small ; 15(12): e1804920, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30767425

RESUMO

Electronic eye cameras are receiving increasing interest due to their unique advantages such as wide field of view, low aberrations, and simple imaging optics compared to conventional planar focal plane arrays. However, the spectral sensing ranges of most electronic eyes are confined to the visible, which is limited by the energy gaps of the sensing materials and by fabrication obstacles. Here, a potential route leading to infrared electronic eyes is demonstrated by exploring flexible colloidal quantum dot (CQD) photovoltaic detectors. Benefitting from their tunable optical response and the ease of fabrication as solution processable materials, mercury telluride (HgTe) CQD detectors with mechanical flexibility, wide spectral sensing range, fast response, and high detectivity are demonstrated. A strategy is provided to further enhance the light absorption in flexible detectors by integrating a Fabry-Perot resonant cavity. Integrated short-wave IR detectors on flexible substrates have peak D* of 7.5 × 1010 Jones at 2.2 µm at room temperature and promise the development of infrared electronic eyes with high-resolution imaging capability. Finally, infrared images are captured with the flexible CQD detectors at varying bending conditions, showing a practical approach to sensitive infrared electronic eyes beyond the visible range.

8.
ACS Nano ; 12(7): 7264-7271, 2018 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-29975502

RESUMO

Colloidal quantum dots (CQDs) with a band gap tunable in the mid-wave infrared (MWIR) region provide a cheap alternative to epitaxial commercial photodetectors such as HgCdTe (MCT) and InSb. Photoconductive HgTe CQD devices have demonstrated the potential of CQDs for MWIR photodetection but face limitations in speed and sensitivity. Recently, a proof-of-concept HgTe photovoltaic (PV) detector was realized, achieving background-limited infrared photodetection at cryogenic temperatures. Using a modified PV device architecture, we report up to 2 orders of magnitude improvement in the sensitivity of the HgTe CQD photodetectors. A solid-state cation exchange method was introduced during device fabrication to chemically modify the interface potential, leading to an order of magnitude improvement of external quantum efficiency at room temperature. At 230 K, the HgTe CQD photodetectors reported here achieve a sensitivity of 109 Jones with a cutoff wavelength between 4 and 5 µm, which is comparable to that of commercial photodetectors. In addition to the chemical treatment, a thin-film interference structure was devised using an optical spacer to achieve near unity internal quantum efficiency upon reducing the operating temperature. The enhanced sensitivity of the HgTe CQD photodetectors reported here should motivate interest in a cheap, solution-processed MWIR photodetector for applications extending beyond research and military defense.

9.
ACS Nano ; 12(7): 7362-7370, 2018 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-29985583

RESUMO

Thermal imaging in the midwave infrared plays an important role for numerous applications. The key functionality is imaging devices in the atmospheric window between 3 and 5 µm, where disturbance from fog, dust, and other atmospheric influence could be avoided. Here, we demonstrate sensitive thermal imaging with HgTe colloidal quantum dot (CQD) photovoltaic detectors by integrating the HgTe CQDs with plasmonic structures. The responsivity at 5 µm is enhanced 2- to 3-fold over a wide range of operating temperatures from 295 to 85 K. A detectivity of 4 × 1011 Jones is achieved at cryogenic temperature. The noise equivalent temperature difference is 14 mK at an acquisition rate of 1 kHz for a 200 µm pixel. Thermal images are captured with a single-pixel scanning imaging system.

10.
Genome Biol Evol ; 10(3): 723-730, 2018 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-29415256

RESUMO

Mutations contribute to genetic variation in all living systems. Thus, precise estimates of mutation rates and spectra across a diversity of organisms are required for a full comprehension of evolution. Here, a mutation-accumulation (MA) assay was carried out on the endosymbiotic bacterium Teredinibacter turnerae. After ∼3,025 generations, base-pair substitutions (BPSs) and insertion-deletion (indel) events were characterized by whole-genome sequencing analysis of 47 independent MA lines, yielding a BPS rate of 1.14 × 10-9 per site per generation and indel rate of 1.55 × 10-10 events per site per generation, which are among the highest within free-living and facultative intracellular bacteria. As in other endosymbionts, a significant bias of BPSs toward A/T and an excess of deletion mutations over insertion mutations are observed for these MA lines. However, even with a deletion bias, the genome remains relatively large (∼5.2 Mb) for an endosymbiotic bacterium. The estimate of the effective population size (Ne) in T. turnerae is quite high and comparable to free-living bacteria (∼4.5 × 107), suggesting that the heavy bottlenecking associated with many endosymbiotic relationships is not prevalent during the life of this endosymbiont. The efficiency of selection scales with increasing Ne and such strong selection may have been operating against the deletion bias, preventing genome erosion. The observed mutation rate in this endosymbiont is of the same order of magnitude of those with similar Ne, consistent with the idea that population size is a primary determinant of mutation-rate evolution within endosymbionts, and that not all endosymbionts have low Ne.


Assuntos
Evolução Molecular , Gammaproteobacteria/genética , Seleção Genética , Variação Genética , Genoma Bacteriano , Mutação , Taxa de Mutação , Simbiose/genética
11.
Genetics ; 206(1): 105-118, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28341647

RESUMO

Population structure can be described by genotypic-correlation coefficients between groups of individuals, the most basic of which are the pairwise relatedness coefficients between any two individuals. There are nine pairwise relatedness coefficients in the most general model, and we show that these can be reduced to seven coefficients for biallelic loci. Although all nine coefficients can be estimated from pedigrees, six coefficients have been beyond empirical reach. We provide a numerical optimization procedure that estimates all seven reduced coefficients from population-genomic data. Simulations show that the procedure is nearly unbiased, even at 3× coverage, and errors in five of the seven coefficients are statistically uncorrelated. The remaining two coefficients have a negative correlation of errors, but their sum provides an unbiased assessment of the overall correlation of heterozygosity between two individuals. Application of these new methods to four populations of the freshwater crustacean Daphnia pulex reveal the occurrence of half siblings in our samples, as well as a number of identical individuals that are likely obligately asexual clone mates. Statistically significant negative estimates of these pairwise relatedness coefficients, including inbreeding coefficients that were typically negative, underscore the difficulties that arise when interpreting genotypic correlations as estimations of the probability that alleles are identical by descent.


Assuntos
Genética Populacional , Genótipo , Modelos Genéticos , Alelos , Animais , Simulação por Computador , Daphnia/genética , Heterozigoto , Endogamia
12.
G3 (Bethesda) ; 7(5): 1405-1416, 2017 05 05.
Artigo em Inglês | MEDLINE | ID: mdl-28235826

RESUMO

Comparing genomes of closely related genotypes from populations with distinct demographic histories can help reveal the impact of effective population size on genome evolution. For this purpose, we present a high quality genome assembly of Daphnia pulex (PA42), and compare this with the first sequenced genome of this species (TCO), which was derived from an isolate from a population with >90% reduction in nucleotide diversity. PA42 has numerous similarities to TCO at the gene level, with an average amino acid sequence identity of 98.8 and >60% of orthologous proteins identical. Nonetheless, there is a highly elevated number of genes in the TCO genome annotation, with ∼7000 excess genes appearing to be false positives. This view is supported by the high GC content, lack of introns, and short length of these suspicious gene annotations. Consistent with the view that reduced effective population size can facilitate the accumulation of slightly deleterious genomic features, we observe more proliferation of transposable elements (TEs) and a higher frequency of gained introns in the TCO genome.


Assuntos
Daphnia/genética , Sequenciamento Completo do Genoma/métodos , Animais , Elementos de DNA Transponíveis , Íntrons , Anotação de Sequência Molecular/métodos , Anotação de Sequência Molecular/normas , Padrões de Referência , Sensibilidade e Especificidade , Alinhamento de Sequência/métodos , Alinhamento de Sequência/normas , Sequenciamento Completo do Genoma/normas
13.
Genetics ; 206(1): 315-332, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-27932545

RESUMO

Using data from 83 isolates from a single population, the population genomics of the microcrustacean Daphnia pulex are described and compared to current knowledge for the only other well-studied invertebrate, Drosophila melanogaster These two species are quite similar with respect to effective population sizes and mutation rates, although some features of recombination appear to be different, with linkage disequilibrium being elevated at short ([Formula: see text] bp) distances in D. melanogaster and at long distances in D. pulex The study population adheres closely to the expectations under Hardy-Weinberg equilibrium, and reflects a past population history of no more than a twofold range of variation in effective population size. Fourfold redundant silent sites and a restricted region of intronic sites appear to evolve in a nearly neutral fashion, providing a powerful tool for population genetic analyses. Amino acid replacement sites are predominantly under strong purifying selection, as are a large fraction of sites in UTRs and intergenic regions, but the majority of SNPs at such sites that rise to frequencies [Formula: see text] appear to evolve in a nearly neutral fashion. All forms of genomic sites (including replacement sites within codons, and intergenic and UTR regions) appear to be experiencing an [Formula: see text] higher level of selection scaled to the power of drift in D. melanogaster, but this may in part be a consequence of recent demographic changes. These results establish D. pulex as an excellent system for future work on the evolutionary genomics of natural populations.


Assuntos
Daphnia/genética , Drosophila melanogaster/genética , Evolução Molecular , Genética Populacional , Animais , Genoma , Genômica , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único
14.
Nat Rev Genet ; 17(11): 704-714, 2016 10 14.
Artigo em Inglês | MEDLINE | ID: mdl-27739533

RESUMO

As one of the few cellular traits that can be quantified across the tree of life, DNA-replication fidelity provides an excellent platform for understanding fundamental evolutionary processes. Furthermore, because mutation is the ultimate source of all genetic variation, clarifying why mutation rates vary is crucial for understanding all areas of biology. A potentially revealing hypothesis for mutation-rate evolution is that natural selection primarily operates to improve replication fidelity, with the ultimate limits to what can be achieved set by the power of random genetic drift. This drift-barrier hypothesis is consistent with comparative measures of mutation rates, provides a simple explanation for the existence of error-prone polymerases and yields a formal counter-argument to the view that selection fine-tunes gene-specific mutation rates.


Assuntos
Evolução Biológica , Deriva Genética , Variação Genética/genética , Taxa de Mutação , Seleção Genética/genética , Humanos , Modelos Genéticos
15.
Dalton Trans ; 45(45): 18171-18176, 2016 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-27792232

RESUMO

Atomistic investigations of crystalline scheelite, CaWO4, and 99Tc-bearing scheelite, CaWO4:Tc, have been carried out using density functional theory. The lattice constants, bulk modulus, and volume compression data of CaWO4 have been calculated and compared with experimental data, with a focus on predictive understanding of 99Tc incorporation in CaWO4. Defect formation energies have been computed for several possible interstitial (I) and substitutional (S) sites of 99Tc in CaWO4. Both I(Oh) and S(W) sites were found to be energetically favourable for Tc doping. X-ray diffraction (XRD) spectra for each 99Tc defect type have been simulated to help interpret the complex experimental XRD patterns. This work on CaWO4:Tc provides insights into materials generated during nuclear weapons testing and useful spectral signatures for nuclear forensics.

16.
G3 (Bethesda) ; 6(8): 2583-91, 2016 08 09.
Artigo em Inglês | MEDLINE | ID: mdl-27317782

RESUMO

Mutations are the ultimate source of variation used for evolutionary adaptation, while also being predominantly deleterious and a source of genetic disorders. Understanding the rate of insertion-deletion mutations (indels) is essential to understanding evolutionary processes, especially in coding regions, where such mutations can disrupt production of essential proteins. Using direct estimates of indel rates from 14 phylogenetically diverse eukaryotic and bacterial species, along with measures of standing variation in such species, we obtain results that imply an inverse relationship of mutation rate and effective population size. These results, which corroborate earlier observations on the base-substitution mutation rate, appear most compatible with the hypothesis that natural selection reduces mutation rates per effective genome to the point at which the power of random genetic drift (approximated by the inverse of effective population size) becomes overwhelming. Given the substantial differences in DNA metabolism pathways that give rise to these two types of mutations, this consistency of results raises the possibility that refinement of other molecular and cellular traits may be inversely related to species-specific levels of random genetic drift.


Assuntos
Deriva Genética , Mutação INDEL , Taxa de Mutação , Agrobacterium tumefaciens/genética , Evolução Biológica , Evolução Molecular , Genoma , Tamanho do Genoma , Seleção Genética , Staphylococcus epidermidis/genética , Vibrio cholerae/genética
17.
Genome Res ; 26(1): 60-9, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26518480

RESUMO

Knowledge of the genome-wide rate and spectrum of mutations is necessary to understand the origin of disease and the genetic variation driving all evolutionary processes. Here, we provide a genome-wide analysis of the rate and spectrum of mutations obtained in two Daphnia pulex genotypes via separate mutation-accumulation (MA) experiments. Unlike most MA studies that utilize haploid, homozygous, or self-fertilizing lines, D. pulex can be propagated ameiotically while maintaining a naturally heterozygous, diploid genome, allowing the capture of the full spectrum of genomic changes that arise in a heterozygous state. While base-substitution mutation rates are similar to those in other multicellular eukaryotes (about 4 × 10(-9) per site per generation), we find that the rates of large-scale (>100 kb) de novo copy-number variants (CNVs) are significantly elevated relative to those seen in previous MA studies. The heterozygosity maintained in this experiment allowed for estimates of gene-conversion processes. While most of the conversion tract lengths we report are similar to those generated by meiotic processes, we also find larger tract lengths that are indicative of mitotic processes. Comparison of MA lines to natural isolates reveals that a majority of large-scale CNVs in natural populations are removed by purifying selection. The mutations observed here share similarities with disease-causing, complex, large-scale CNVs, thereby demonstrating that MA studies in D. pulex serve as a system for studying the processes leading to such alterations.


Assuntos
Daphnia/genética , Deleção de Genes , Duplicação Gênica , Taxa de Mutação , Animais , Variações do Número de Cópias de DNA , Evolução Molecular , Feminino , Estudos de Associação Genética , Variação Genética , Heterozigoto , Masculino , Análise de Sequência de DNA
18.
Mol Biol Evol ; 32(12): 3215-25, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26351296

RESUMO

Hybridization plays a potentially important role in the origin of obligate parthenogenesis (OP) in many organisms. However, it remains controversial whether hybridization directly triggers the transition from sexual reproduction to obligate asexuality or a hybrid genetic background enables asexual species to persist. Furthermore, we know little about the specific genetic elements from the divergent, yet still hybridizing lineages responsible for this transition and how these elements are further spread to create other OP lineages. In this study, we address these questions in Daphnia pulex, where cyclically parthenogenetic (CP) and OP lineages coexist. Ancestry estimates and whole-genome association mapping using 32 OP isolates suggest that a complex hybridization history between the parental species D. pulex and D. pulicaria is responsible for the introgression of a set of 647 D. pulicaria single nucleotide polymorphism alleles that show perfect association with OP. Crossing experiments using males of OP lineages and females of CP lineages strongly support a polygenic basis for OP. Single-sperm analyses show that although normal meiotic recombination occurs in the production of haploid sperm by males of OP lineages, a significant proportion of such sperm are polyploid, suggesting that the spread of asexual elements through these males (i.e., contagious asexuality) is much less efficient than previously envisioned. Although the current Daphnia genome annotation does not provide mechanistic insight into the nature of the asexuality-associated alleles, these alleles should be considered as candidates for future investigations on the genetic underpinnings of OP.


Assuntos
Daphnia/genética , Reprodução Assexuada/genética , Alelos , Animais , Mapeamento Cromossômico , Evolução Molecular , Feminino , Haploidia , Hibridização Genética , Masculino , Repetições de Microssatélites , Modelos Genéticos , Partenogênese , Filogenia , Poliploidia
19.
Genetics ; 201(1): 31-8, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26116153

RESUMO

Genetic linkage maps are critical for assembling draft genomes to a meaningful chromosome level and for deciphering the genomic underpinnings of biological traits. The estimates of recombination rates derived from genetic maps also play an important role in understanding multiple aspects of genomic evolution such as nucleotide substitution patterns and accumulation of deleterious mutations. In this study, we developed a high-throughput experimental approach that combines fluorescence-activated cell sorting, whole-genome amplification, and short-read sequencing to construct a genetic map using single-sperm cells. Furthermore, a computational algorithm was developed to analyze single-sperm whole-genome sequencing data for map construction. These methods allowed us to rapidly build a male-specific genetic map for the freshwater microcrustacean Daphnia pulex, which shows significant improvements compared to a previous map. With a total of mapped 1672 haplotype blocks and an average intermarker distance of 0.87 cM, this map spans a total genetic distance of 1451 Kosambi cM and comprises 90% of the resolved regions in the current Daphnia reference assembly. The map also reveals the mistaken mapping of seven scaffolds in the reference assembly onto chromosome II by a previous microsatellite map based on F2 crosses. Our approach can be easily applied to many other organisms and holds great promise for unveiling the intragenomic and intraspecific variation in the recombination rates.


Assuntos
Mapeamento Cromossômico/métodos , Daphnia/genética , Análise de Sequência de DNA/métodos , Análise de Célula Única/métodos , Espermatozoides/citologia , Algoritmos , Animais , Citometria de Fluxo , Genoma , Masculino , Polimorfismo de Nucleotídeo Único
20.
Mol Biol Evol ; 32(9): 2383-92, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25976352

RESUMO

Deinococcus bacteria are extremely resistant to radiation, oxidation, and desiccation. Resilience to these factors has been suggested to be due to enhanced damage prevention and repair mechanisms, as well as highly efficient antioxidant protection systems. Here, using mutation-accumulation experiments, we find that the GC-rich Deinococcus radiodurans has an overall background genomic mutation rate similar to that of E. coli, but differs in mutation spectrum, with the A/T to G/C mutation rate (based on a total count of 88 A:T → G:C transitions and 82 A:T → C:G transversions) per site per generation higher than that in the other direction (based on a total count of 157 G:C → A:T transitions and 33 G:C → T:A transversions). We propose that this unique spectrum is shaped mainly by the abundant uracil DNA glycosylases reducing G:C → A:T transitions, adenine methylation elevating A:T → C:G transversions, and absence of cytosine methylation decreasing G:C → A:T transitions. As opposed to the greater than 100× elevation of the mutation rate in MMR(-) (DNA Mismatch Repair deficient) strains of most other organisms, MMR(-) D. radiodurans only exhibits a 4-fold elevation, raising the possibility that other DNA repair mechanisms compensate for a relatively low-efficiency DNA MMR pathway. As D. radiodurans has plentiful insertion sequence (IS) elements in the genome and the activities of IS elements are rarely directly explored, we also estimated the insertion (transposition) rate of the IS elements to be 2.50 × 10(-3) per genome per generation in the wild-type strain; knocking out MMR did not elevate the IS element insertion rate in this organism.


Assuntos
DNA Bacteriano/genética , Deinococcus/genética , Proteínas de Bactérias/genética , Dano ao DNA , Metilação de DNA , Reparo do DNA , Deinococcus/enzimologia , Genes Bacterianos , Deriva Genética , Mutagênese Insercional , Taxa de Mutação , Plasmídeos/genética , Mutação Puntual , Tolerância a Radiação , Uracila-DNA Glicosidase/genética
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